- Disorder of bone growth that causes the most common kind of dwarfism - May be inherited as an autosomal dominant trait (if one parent gives the child the defective gene, the child WILL have the disorder) - If one parent has achrondoplasia, the child will have a 50% chance of getting the disorder. - If BOTH parents have achrondoplasia, the child has a 75% change of getting the disorder. - Most cases occur as spontaneous mutations meaning that 2 normal parents can have a child with dwarfism.
Symptoms: -Achrondoplasia dwarfism may be seen at birth. -Abnormal hand appearance with persistent space between long and ring fingers. -Bowed legs -Decreased muscle tone. -Large head. -Prominent forehead Treatment: - There is no specific treatment - Related abnormalities such as spinal stenosis and spinal cord compression. Expectations: - People with achrondoplasia rarely reach 5 feet in height - They have normal intelligence - Infants that receive the defected gene from both parents barely live beyond a few months.
- Disorder of bone growth that causes the most common kind of dwarfism
- May be inherited as an autosomal dominant trait (if one parent gives the child the defective gene, the child WILL have the disorder)
- If one parent has achrondoplasia, the child will have a 50% chance of getting the disorder.
- If BOTH parents have achrondoplasia, the child has a 75% change of getting the disorder.
- Most cases occur as spontaneous mutations meaning that 2 normal parents can have a child with dwarfism.
Symptoms:
- Achrondoplasia dwarfism may be seen at birth.
- Abnormal hand appearance with persistent space between long and ring fingers.
- Bowed legs
- Decreased muscle tone.
- Large head.
- Prominent forehead
Treatment:
- There is no specific treatment
- Related abnormalities such as spinal stenosis and spinal cord compression.
Expectations:
- People with achrondoplasia rarely reach 5 feet in height
- They have normal intelligence
- Infants that receive the defected gene from both parents barely live beyond a few months.